Incidental Mutation 'R9065:Jarid2'
ID 689220
Institutional Source Beutler Lab
Gene Symbol Jarid2
Ensembl Gene ENSMUSG00000038518
Gene Name jumonji and AT-rich interaction domain containing 2
Synonyms jumonji, Jmj
MMRRC Submission 068890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9065 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 44882950-45075119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44994326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 13 (V13L)
Ref Sequence ENSEMBL: ENSMUSP00000134630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000172977] [ENSMUST00000173003] [ENSMUST00000173246] [ENSMUST00000173367] [ENSMUST00000173704] [ENSMUST00000173906] [ENSMUST00000174068]
AlphaFold Q62315
Predicted Effect probably benign
Transcript: ENSMUST00000044608
SMART Domains Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1191 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172977
SMART Domains Protein: ENSMUSP00000134276
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
Blast:JmjC 8 61 4e-18 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000173003
AA Change: V13L
Predicted Effect probably benign
Transcript: ENSMUST00000173246
SMART Domains Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1191 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173367
SMART Domains Protein: ENSMUSP00000134658
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 42 56 N/A INTRINSIC
low complexity region 126 146 N/A INTRINSIC
low complexity region 195 214 N/A INTRINSIC
JmjN 415 456 1.77e-20 SMART
PDB:2RQ5|A 476 507 3e-14 PDB
Blast:ARID 477 507 2e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173704
SMART Domains Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
low complexity region 265 285 N/A INTRINSIC
low complexity region 334 353 N/A INTRINSIC
JmjN 554 595 1.77e-20 SMART
ARID 616 707 4.96e-24 SMART
BRIGHT 620 712 1.7e-29 SMART
low complexity region 791 800 N/A INTRINSIC
JmjC 882 1046 1.04e-50 SMART
Pfam:zf-C5HC2 1137 1190 1e-10 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000134630
Gene: ENSMUSG00000038518
AA Change: V13L

DomainStartEndE-ValueType
low complexity region 48 61 N/A INTRINSIC
low complexity region 143 157 N/A INTRINSIC
low complexity region 227 247 N/A INTRINSIC
low complexity region 296 315 N/A INTRINSIC
JmjN 516 557 1.77e-20 SMART
ARID 578 669 4.96e-24 SMART
BRIGHT 582 674 1.7e-29 SMART
low complexity region 753 762 N/A INTRINSIC
JmjC 844 1008 1.04e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174068
SMART Domains Protein: ENSMUSP00000134593
Gene: ENSMUSG00000038518

DomainStartEndE-ValueType
Blast:JmjC 8 65 2e-19 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
PHENOTYPE: Homozygous mutants show strain-specific phenotypes, including embryonic death and defective neural tube closure, impaired hematopoiesis and hypoplasia of liver, thymus and spleen. Homozygotes for another mutation die at birth with cardiac defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,323,084 (GRCm39) N1472S probably benign Het
4930447C04Rik C A 12: 72,939,604 (GRCm39) Q435H possibly damaging Het
Aass G T 6: 23,075,746 (GRCm39) A797E probably benign Het
Ap3b1 T A 13: 94,608,223 (GRCm39) Y565N probably damaging Het
Arid2 A G 15: 96,269,372 (GRCm39) T1162A probably benign Het
Atp11b T C 3: 35,887,131 (GRCm39) probably null Het
Card11 G A 5: 140,894,297 (GRCm39) P111S probably damaging Het
Ccdc66 T A 14: 27,213,850 (GRCm39) E328D probably damaging Het
Cldn8 T A 16: 88,359,902 (GRCm39) M8L probably benign Het
Cnot9 T A 1: 74,558,142 (GRCm39) L96* probably null Het
Cntnap5c T A 17: 58,445,642 (GRCm39) C561S probably damaging Het
Dnah5 A G 15: 28,293,936 (GRCm39) D1347G probably benign Het
Epb41 A G 4: 131,682,888 (GRCm39) V390A Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Eps15l1 G T 8: 73,145,762 (GRCm39) S157* probably null Het
Ercc6l2 A G 13: 63,967,866 (GRCm39) I155M possibly damaging Het
Esco1 G T 18: 10,594,005 (GRCm39) T427K probably benign Het
Fignl1 C T 11: 11,752,692 (GRCm39) C121Y possibly damaging Het
Flrt2 A G 12: 95,746,177 (GRCm39) S172G probably damaging Het
Frmd3 A T 4: 74,063,269 (GRCm39) probably null Het
Fuz C T 7: 44,546,721 (GRCm39) R119W probably damaging Het
Gtf2ird2 T G 5: 134,225,407 (GRCm39) I165S probably damaging Het
Itih1 T A 14: 30,657,833 (GRCm39) I417F probably damaging Het
Kndc1 C T 7: 139,507,708 (GRCm39) S1222F possibly damaging Het
Lcor C T 19: 41,573,698 (GRCm39) R818W probably damaging Het
Lpp T A 16: 24,580,889 (GRCm39) W327R probably benign Het
Msrb2 T A 2: 19,383,041 (GRCm39) F56I possibly damaging Het
Muc16 A G 9: 18,554,305 (GRCm39) I3996T unknown Het
Myh4 C A 11: 67,139,573 (GRCm39) A630E probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Oacyl T A 18: 65,840,484 (GRCm39) F85Y probably damaging Het
Or5ac24 C T 16: 59,165,530 (GRCm39) C178Y probably damaging Het
Or5b118 T A 19: 13,448,670 (GRCm39) I70N probably damaging Het
Or6c69b T A 10: 129,626,727 (GRCm39) I244F possibly damaging Het
Pcdha11 A C 18: 37,139,877 (GRCm39) E502A possibly damaging Het
Pcnx3 T C 19: 5,717,582 (GRCm39) E1509G possibly damaging Het
Pfkm A T 15: 98,021,680 (GRCm39) S314C probably damaging Het
Plch1 T C 3: 63,674,924 (GRCm39) H230R probably damaging Het
Ppfia4 A T 1: 134,251,893 (GRCm39) V427E possibly damaging Het
Ppox TCTTATACCTGGAC TC 1: 171,105,447 (GRCm39) probably benign Het
Prr11 G A 11: 86,992,249 (GRCm39) P209S probably damaging Het
Prrc2b C A 2: 32,109,304 (GRCm39) Q1690K probably damaging Het
Rgs3 A T 4: 62,620,465 (GRCm39) M564L probably benign Het
Sec24d T C 3: 123,149,452 (GRCm39) Y820H probably damaging Het
Six4 A C 12: 73,159,498 (GRCm39) I154S possibly damaging Het
Spata31e4 A T 13: 50,856,276 (GRCm39) H638L probably benign Het
Spock3 A G 8: 63,801,989 (GRCm39) K323E probably damaging Het
Stmn4 A T 14: 66,596,126 (GRCm39) probably null Het
Tafa2 A G 10: 123,429,421 (GRCm39) K12E probably benign Het
Tanc2 C T 11: 105,689,518 (GRCm39) R227* probably null Het
Tcp1 T A 17: 13,139,210 (GRCm39) V179D probably damaging Het
Trmt5 A T 12: 73,328,038 (GRCm39) F388L probably damaging Het
Tsc2 G T 17: 24,822,164 (GRCm39) P1126H probably benign Het
Ttn T A 2: 76,612,720 (GRCm39) I17120F probably damaging Het
Ttn T G 2: 76,778,270 (GRCm39) K1372N unknown Het
U2surp T C 9: 95,359,563 (GRCm39) T652A probably benign Het
Utp20 A G 10: 88,592,972 (GRCm39) V2239A probably benign Het
Vps33b A G 7: 79,935,339 (GRCm39) T356A probably damaging Het
Vwf C A 6: 125,623,262 (GRCm39) H1786Q Het
Wwox A G 8: 115,215,682 (GRCm39) I152V probably benign Het
Ythdc2 A G 18: 44,977,418 (GRCm39) T405A probably benign Het
Zfpm2 A T 15: 40,962,712 (GRCm39) I257F possibly damaging Het
Other mutations in Jarid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Jarid2 APN 13 45,038,311 (GRCm39) missense probably damaging 1.00
IGL02217:Jarid2 APN 13 45,066,677 (GRCm39) missense probably damaging 1.00
IGL02378:Jarid2 APN 13 45,067,801 (GRCm39) missense probably damaging 0.98
IGL02604:Jarid2 APN 13 45,027,877 (GRCm39) missense probably damaging 1.00
IGL02865:Jarid2 APN 13 45,064,036 (GRCm39) missense probably damaging 1.00
IGL02926:Jarid2 APN 13 45,056,405 (GRCm39) missense probably benign 0.03
R0057:Jarid2 UTSW 13 45,038,332 (GRCm39) missense probably damaging 0.96
R0426:Jarid2 UTSW 13 44,994,358 (GRCm39) critical splice donor site probably null
R0545:Jarid2 UTSW 13 45,056,307 (GRCm39) missense probably benign 0.10
R0562:Jarid2 UTSW 13 45,055,835 (GRCm39) missense probably damaging 0.99
R1192:Jarid2 UTSW 13 45,060,021 (GRCm39) missense probably damaging 1.00
R1241:Jarid2 UTSW 13 45,038,368 (GRCm39) splice site probably benign
R1254:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1464:Jarid2 UTSW 13 45,001,857 (GRCm39) missense probably damaging 0.97
R1464:Jarid2 UTSW 13 45,001,857 (GRCm39) missense probably damaging 0.97
R1552:Jarid2 UTSW 13 45,064,675 (GRCm39) missense probably damaging 1.00
R1728:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1729:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1730:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1739:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1783:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1785:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1844:Jarid2 UTSW 13 45,056,219 (GRCm39) missense possibly damaging 0.71
R1896:Jarid2 UTSW 13 45,038,358 (GRCm39) critical splice donor site probably null
R1965:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1966:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R1995:Jarid2 UTSW 13 45,027,917 (GRCm39) missense probably damaging 1.00
R2120:Jarid2 UTSW 13 45,059,812 (GRCm39) missense probably benign 0.17
R2142:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R2172:Jarid2 UTSW 13 45,056,015 (GRCm39) missense probably damaging 0.99
R2242:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R2245:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3110:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3111:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3112:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3115:Jarid2 UTSW 13 45,049,942 (GRCm39) missense probably damaging 1.00
R3620:Jarid2 UTSW 13 45,059,752 (GRCm39) missense probably damaging 1.00
R3704:Jarid2 UTSW 13 45,055,831 (GRCm39) missense probably benign
R3802:Jarid2 UTSW 13 45,056,307 (GRCm39) missense probably benign 0.10
R3804:Jarid2 UTSW 13 45,056,307 (GRCm39) missense probably benign 0.10
R4126:Jarid2 UTSW 13 45,055,732 (GRCm39) missense probably damaging 1.00
R4127:Jarid2 UTSW 13 45,055,732 (GRCm39) missense probably damaging 1.00
R4128:Jarid2 UTSW 13 45,055,732 (GRCm39) missense probably damaging 1.00
R4153:Jarid2 UTSW 13 45,063,902 (GRCm39) missense probably damaging 1.00
R4844:Jarid2 UTSW 13 45,067,248 (GRCm39) missense probably damaging 0.96
R5044:Jarid2 UTSW 13 45,060,041 (GRCm39) missense probably damaging 1.00
R5329:Jarid2 UTSW 13 45,059,747 (GRCm39) missense possibly damaging 0.49
R5632:Jarid2 UTSW 13 45,049,766 (GRCm39) missense probably damaging 0.97
R5820:Jarid2 UTSW 13 45,055,777 (GRCm39) missense possibly damaging 0.96
R6267:Jarid2 UTSW 13 45,056,539 (GRCm39) missense possibly damaging 0.93
R6296:Jarid2 UTSW 13 45,056,539 (GRCm39) missense possibly damaging 0.93
R6479:Jarid2 UTSW 13 45,001,765 (GRCm39) missense probably benign 0.22
R6619:Jarid2 UTSW 13 45,027,872 (GRCm39) missense probably damaging 1.00
R6633:Jarid2 UTSW 13 45,038,353 (GRCm39) missense probably damaging 0.97
R6970:Jarid2 UTSW 13 45,056,461 (GRCm39) missense probably damaging 1.00
R7020:Jarid2 UTSW 13 45,038,300 (GRCm39) missense probably damaging 1.00
R7155:Jarid2 UTSW 13 45,055,938 (GRCm39) missense probably damaging 1.00
R7223:Jarid2 UTSW 13 45,049,798 (GRCm39) missense possibly damaging 0.89
R7265:Jarid2 UTSW 13 45,055,748 (GRCm39) missense probably benign 0.29
R8321:Jarid2 UTSW 13 45,001,862 (GRCm39) missense probably damaging 0.96
R8872:Jarid2 UTSW 13 45,055,984 (GRCm39) missense possibly damaging 0.88
R9064:Jarid2 UTSW 13 44,994,326 (GRCm39) missense
R9067:Jarid2 UTSW 13 44,994,326 (GRCm39) missense
R9153:Jarid2 UTSW 13 45,064,678 (GRCm39) missense probably damaging 1.00
R9163:Jarid2 UTSW 13 45,064,727 (GRCm39) missense possibly damaging 0.92
R9468:Jarid2 UTSW 13 45,073,306 (GRCm39) missense probably damaging 1.00
R9541:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
R9558:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
R9559:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
R9762:Jarid2 UTSW 13 45,068,253 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCCGCTTGCTTATTACGTAC -3'
(R):5'- TAGGAGCCACCATTACCCTTAGG -3'

Sequencing Primer
(F):5'- CTTGCTTATTACGTACAGGGGAG -3'
(R):5'- ACACTTTAAATACTGTGTGTGTGTG -3'
Posted On 2021-11-19